ID   RUCDRi002-A-69
AC   CVCL_D6MC
SY   PLP1-C33Y
DR   hPSCreg; RUCDRi002-A-69
DR   Wikidata; Q127384099
RX   PubMed=38104430;
CC   From: University Medical Center Goettingen; Goettingen; Germany.
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; 9086; PLP1; Simple_edited; p.Cys33Tyr (c.98G>A); ClinVar=VCV000420045; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=38104430).
CC   Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
DI   NCIt; C75487; Pelizaeus-Merzbacher disease
DI   ORDO; Orphanet_702; Pelizaeus-Merzbacher disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_RH35 ! ND50038
SX   Male
AG   <1D
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38104430; DOI=10.1016/j.scr.2023.103276;
RA   Schreiber M.-K., Zafeiriou M.-P.;
RT   "Generation of Pelizaeus-Merzbacher disease (PMD) mutant (PLP1-C33Y)
RT   in induced pluripotent stem cell (iPSC) by CRISPR/Cas9 genome
RT   editing.";
RL   Stem Cell Res. 74:103276-103276(2024).
//